Substances for the treatment of spinal muscular atrophy

Substances which are capable of preventing the skipping or exclusion of exon 7 of the SMN gene are described. The substances can reverse "wrong" SMN2 splicing pattern, thus generating full length transcripts and thus functionally active SMN protein on the basis of the SMN2 gene in vivo. Si...

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Bibliographische Detailangaben
Hauptverfasser:	HOFMANN, YVONNE, LORSON, CHRIS, ANDROPHY, ELLIOT, WIRTH, BRUNHILDE, STAMM, STEFAN
Format:	Patent
Sprache:	eng ; fre ; ger
Schlagworte:	HUMAN NECESSITIES HYGIENE MEDICAL OR VETERINARY SCIENCE PREPARATIONS FOR MEDICAL, DENTAL, OR TOILET PURPOSES
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Beschreibung
Zusammenfassung:	Substances which are capable of preventing the skipping or exclusion of exon 7 of the SMN gene are described. The substances can reverse "wrong" SMN2 splicing pattern, thus generating full length transcripts and thus functionally active SMN protein on the basis of the SMN2 gene in vivo. Since "wrong" SMN2 splicing is associated with disorder or disease states causing spinal muscular atrophy, but SMN2 genes still exist in viably individuals, the substances can be used as therapeutic agents. The invention also provides a method for testing substances that may control exon 7 inclusion of the SMN2 gene. The method is suitable for a high throughput screening.